A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005517



Internal ID18748048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130011844..130166820hg38UCSC Ensembl
Innerchr3:129730687..129885663hg19UCSC Ensembl
Innerchr3:131213377..131368353hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38154977
hg19154977
hg18154977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4861n100
Supporting Variantsnssv3603559
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005517
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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